KLHL9 Gene (Protein Coding)

Kelch Like Family Member 9

GC09M021329
GIFtS:
40
This gene encodes a protein that belongs to the kelch repeat-containing family, and contains an N-terminal BTB/POZ domain, a BACK domain and six C-terminal kelch repeats. The encoded protein is a component of a complex with cullin 3-based E3 ligase, which plays a role in mitosis. This protein complex is a cell cycle regulator, and functions in the organization and integrity of ... See more...

Aliases for KLHL9 Gene

Aliases for KLHL9 Gene

  • Kelch Like Family Member 9 2 3 5
  • Kelch-Like Protein 9 3 4
  • KIAA1354 2 4
  • Kelch-Like 9 (Drosophila) 2
  • FLJ13568 2
  • KLHL9 5

External Ids for KLHL9 Gene

Previous GeneCards Identifiers for KLHL9 Gene

  • GC00U991232
  • GC09U900612
  • GC09M021322

Summaries for KLHL9 Gene

Entrez Gene Summary for KLHL9 Gene

  • This gene encodes a protein that belongs to the kelch repeat-containing family, and contains an N-terminal BTB/POZ domain, a BACK domain and six C-terminal kelch repeats. The encoded protein is a component of a complex with cullin 3-based E3 ligase, which plays a role in mitosis. This protein complex is a cell cycle regulator, and functions in the organization and integrity of the spindle midzone in anaphase and the completion of cytokinesis. The complex is required for the removal of the chromosomal passenger protein aurora B from mitotic chromosomes. [provided by RefSeq, Jul 2016]

GeneCards Summary for KLHL9 Gene

KLHL9 (Kelch Like Family Member 9) is a Protein Coding gene. Diseases associated with KLHL9 include Klhl9-Related Early-Onset Distal Myopathy and Nemaline Myopathy 9. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include ubiquitin-protein transferase activity. An important paralog of this gene is KLHL13.

UniProtKB/Swiss-Prot Summary for KLHL9 Gene

  • Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis. The BCR(KLHL9-KLHL13) E3 ubiquitin ligase complex mediates the ubiquitination of AURKB and controls the dynamic behavior of AURKB on mitotic chromosomes and thereby coordinates faithful mitotic progression and completion of cytokinesis.

Additional gene information for KLHL9 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KLHL9 Gene

Genomics for KLHL9 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for KLHL9 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KLHL9 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KLHL9

Top Transcription factor binding sites by QIAGEN in the KLHL9 gene promoter:
  • AP-1
  • Bach1
  • Brachyury
  • Egr-2
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • SRF
  • SRF (504 AA)

Genomic Locations for KLHL9 Gene

Genomic Locations for KLHL9 Gene
chr9:21,329,665-21,335,404
(GRCh38/hg38)
Size:
5,740 bases
Orientation:
Minus strand
chr9:21,329,670-21,335,429
(GRCh37/hg19)
Size:
5,760 bases
Orientation:
Minus strand

Genomic View for KLHL9 Gene

Genes around KLHL9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLHL9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLHL9 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for KLHL9 Gene

Proteins for KLHL9 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for KLHL9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P2J3-KLHL9_HUMAN
    Recommended name:
    Kelch-like protein 9
    Protein Accession:
    Q9P2J3
    Secondary Accessions:
    • Q8TCQ2

    Protein attributes for KLHL9 Gene

    Size:
    617 amino acids
    Molecular mass:
    69429 Da
    Quaternary structure:
    • Component of the BCR(KLHL9-KLHL13) E3 ubiquitin ligase complex, at least composed of CUL3, KLHL9, KLHL13 and RBX1. Interacts with AURKB.
    SequenceCaution:
    • Sequence=BAA92592.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for KLHL9 Gene

Protein Expression for KLHL9 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for KLHL9 Gene

  • Ubiquitination at Lys171
  • Modification sites at PhosphoSitePlus

Other Protein References for KLHL9 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for KLHL9
  • Boster Bio Antibodies for KLHL9

No data available for DME Specific Peptides for KLHL9 Gene

Domains & Families for KLHL9 Gene

Gene Families for KLHL9 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for KLHL9 Gene

InterPro:
Blocks:
  • BTB/POZ domain
  • BTB/Kelch-associated
ProtoNet:

Suggested Antigen Peptide Sequences for KLHL9 Gene

GenScript: Design optimal peptide antigens:
  • Kelch-like protein 9 (KLHL9_HUMAN)
  • cDNA FLJ34396 fis, clone HCHON2000826, highly similar to Kelch-like protein 9 (Q58EZ4_HUMAN)
genes like me logo Genes that share domains with KLHL9: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KLHL9 Gene

Function for KLHL9 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for KLHL9 Gene

UniProtKB/Swiss-Prot Function:
Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis. The BCR(KLHL9-KLHL13) E3 ubiquitin ligase complex mediates the ubiquitination of AURKB and controls the dynamic behavior of AURKB on mitotic chromosomes and thereby coordinates faithful mitotic progression and completion of cytokinesis.

Phenotypes From GWAS Catalog for KLHL9 Gene

Gene Ontology (GO) - Molecular Function for KLHL9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 contributes_to ubiquitin-protein transferase activity IDA 17543862
GO:0005515 protein binding IEA --
GO:0097602 cullin family protein binding IPI 14528312
genes like me logo Genes that share ontologies with KLHL9: view
genes like me logo Genes that share phenotypes with KLHL9: view

Human Phenotype Ontology for KLHL9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KLHL9

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for KLHL9 Gene

Localization for KLHL9 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KLHL9 gene
Compartment Confidence
cytosol 4
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KLHL9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0030496 midbody IBA,IDA 19995937
GO:0031463 Cul3-RING ubiquitin ligase complex IDA 17543862
genes like me logo Genes that share ontologies with KLHL9: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KLHL9 Gene

Pathways & Interactions for KLHL9 Gene

genes like me logo Genes that share pathways with KLHL9: view

Pathways by source for KLHL9 Gene

1 BioSystems pathway for KLHL9 Gene
1 KEGG pathway for KLHL9 Gene

UniProtKB/Swiss-Prot Q9P2J3-KLHL9_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for KLHL9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0016567 protein ubiquitination IEA --
GO:0032465 regulation of cytokinesis IMP 17543862
GO:0043687 post-translational protein modification TAS --
GO:0051301 cell division IEA --
genes like me logo Genes that share ontologies with KLHL9: view

No data available for SIGNOR curated interactions for KLHL9 Gene

Drugs & Compounds for KLHL9 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for KLHL9 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for KLHL9 Gene

2 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KLHL9

Alternative Splicing Database (ASD) splice patterns (SP) for KLHL9 Gene

No ASD Table

Relevant External Links for KLHL9 Gene

GeneLoc Exon Structure for
KLHL9

Expression for KLHL9 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KLHL9 Gene

mRNA expression in normal human tissues for KLHL9 Gene
mRNA expression by GTEx for KLHL9 GenemRNA expression by BioGPS for KLHL9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KLHL9 Gene



Protein tissue co-expression partners for KLHL9 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KLHL9

SOURCE GeneReport for Unigene cluster for KLHL9 Gene:

Hs.701778

Evidence on tissue expression from TISSUES for KLHL9 Gene

  • Nervous system(4.9)
  • Lung(4.1)
genes like me logo Genes that share expression patterns with KLHL9: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KLHL9 Gene

Orthologs for KLHL9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KLHL9 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia KLHL9 30 31
  • 99.84 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia KLHL9 30 31
  • 94.38 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia LOC100688162 30
  • 92.44 (n)
Rat
(Rattus norvegicus)
 Mammalia Klhl9 30
  • 91.95 (n)
Mouse
(Mus musculus)
 Mammalia Klhl9 30 17 31
  • 91.57 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 83 (a)
 OneToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 81 (a)
 OneToMany
Chicken
(Gallus gallus)
 Aves KLHL13 30 31
  • 85.75 (n)
 OneToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 90 (a)
 OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia klhl13 30
  • 81.51 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.31679 30
Zebrafish
(Danio rerio)
 Actinopterygii klhl13 30 31
  • 74.55 (n)
 OneToMany
wufc15b07 30
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 65 (a)
 OneToMany
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.6929 30
Species where no ortholog for KLHL9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for KLHL9 Gene

ENSEMBL:
Gene Tree for KLHL9 (if available)
TreeFam:
Gene Tree for KLHL9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KLHL9: view image

Paralogs for KLHL9 Gene

Paralogs for KLHL9 Gene

(22) SIMAP similar genes for KLHL9 Gene using alignment to 2 proteins:

  • KLHL9_HUMAN
  • Q58EZ4_HUMAN
genes like me logo Genes that share paralogs with KLHL9: view

Variants for KLHL9 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KLHL9 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs780821611 Likely Pathogenic: not provided 21,334,300(-) G/C MISSENSE_VARIANT
rs869312950 Uncertain Significance: Inborn genetic diseases 21,333,897(-) A/T MISSENSE_VARIANT
rs980802126 Uncertain Significance: not provided 21,334,417(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for KLHL9 Gene

Structural Variations from Database of Genomic Variants (DGV) for KLHL9 Gene

Variant ID Type Subtype PubMed ID
esv2764150 CNV gain+loss 21179565

Variation tolerance for KLHL9 Gene

Residual Variation Intolerance Score: 12.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.15; 38.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KLHL9 Gene

Human Gene Mutation Database (HGMD)
KLHL9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLHL9

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHL9 Gene

Disorders for KLHL9 Gene

MalaCards: The human disease database

(7) MalaCards diseases for KLHL9 Gene - From: Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search KLHL9 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for KLHL9

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with KLHL9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KLHL9 Gene

Publications for KLHL9 Gene

  1. Associations of 9p21 variants with cutaneous malignant melanoma, nevi, and pigmentation phenotypes in melanoma-prone families with and without CDKN2A mutations. (PMID: 20574843) Yang XR … Goldstein AM (Familial cancer 2010) 3 41
  2. The Cul3-KLHL21 E3 ubiquitin ligase targets aurora B to midzone microtubules in anaphase and is required for cytokinesis. (PMID: 19995937) Maerki S … Peter M (The Journal of cell biology 2009) 3 4
  3. A Cul3-based E3 ligase removes Aurora B from mitotic chromosomes, regulating mitotic progression and completion of cytokinesis in human cells. (PMID: 17543862) Sumara I … Peter M (Developmental cell 2007) 3 4
  4. Targeting of protein ubiquitination by BTB-Cullin 3-Roc1 ubiquitin ligases. (PMID: 14528312) Furukawa M … Xiong Y (Nature cell biology 2003) 3 4
  5. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4

ExternalLinks

View latest publications for KLHL9 gene in Mastermind

Products for KLHL9 Gene

  • Signalway Proteins for KLHL9

Sources for KLHL9 Gene